This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause pe... See more...

Aliases for PEX6 Gene

Aliases for PEX6 Gene

  • Peroxisomal Biogenesis Factor 6 2 3 4 5
  • Peroxisome Assembly Factor 2 3 4
  • Peroxisomal-Type ATPase 1 3 4
  • Peroxin-6 3 4
  • PXAAA1 3 4
  • PAF-2 3 4
  • Peroxisome Biogenesis Factor 6 3
  • Peroxisomal AAA-Type ATPase 1 3
  • HMLR2 3
  • PBD4A 3
  • PDB4B 3
  • PAF2 3

External Ids for PEX6 Gene

Previous GeneCards Identifiers for PEX6 Gene

  • GC06M042933
  • GC06M042978
  • GC06M043039
  • GC06M042648

Summaries for PEX6 Gene

Entrez Gene Summary for PEX6 Gene

  • This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

GeneCards Summary for PEX6 Gene

PEX6 (Peroxisomal Biogenesis Factor 6) is a Protein Coding gene. Diseases associated with PEX6 include Peroxisome Biogenesis Disorder 4A and Heimler Syndrome 2. Among its related pathways are Peroxisome. Gene Ontology (GO) annotations related to this gene include ATPase activity and protein C-terminus binding. An important paralog of this gene is NVL.

UniProtKB/Swiss-Prot Summary for PEX6 Gene

  • Involved in peroxisome biosynthesis. Required for stability of the PTS1 receptor. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes.

Gene Wiki entry for PEX6 Gene

Additional gene information for PEX6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PEX6 Gene

Genomics for PEX6 Gene

GeneHancer (GH) Regulatory Elements for PEX6 Gene

Promoters and enhancers for PEX6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J042977 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 846.1 +0.4 439 4 ZBTB40 ZBTB6 MLX SMARCE1 RBPJ POLR2A NR2F6 ATF1 CREB1 HCFC1 PEX6 ZNF318 ABCC10 POLH ENSG00000220614 XPO5 ENSG00000219470 POLR1C GTPBP2 RRP36
GH06J042981 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 757 -4.8 -4758 3.6 SP1 RBPJ SMARCE1 POLR2A ATF1 FOS CREB1 MIXL1 CC2D1A NFYC PEX6 PPP2R5D piR-50444-396 CUL7 TTBK1 KLHDC3 MEA1 RF00017-5554
GH06J042928 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 75.6 +48.6 48639 6 ZNF24 SP1 ZBTB40 MLX SMARCE1 RBPJ POLR2A USF2 ATF1 FOS CNPY3 5MWI_A-162 ENSG00000287825 piR-40685 lnc-PEX6-3 GNMT PEX6 POLH ZNF318 GTPBP2
GH06J042959 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 91.4 +18.6 18642 2 ZBTB6 RBPJ ZNF362 NFYC ZNF121 MNT ELF3 SP1 TFE3 CEBPG lnc-PEX6-2 GNMT PEX6 CUL7 RPL24P4 RF00017-5554
GH06J042970 Enhancer 1 Ensembl ENCODE 93.2 +8.3 8334 3 SMARCE1 CEBPG BACH1 SP7 ZSCAN21 SMARCA4 PRDM1 MTA1 ZNF644 KAT8 PEX6 DNPH1 ENSG00000231113 lnc-PEX6-2 RF00017-5554
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PEX6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PEX6 gene promoter:
  • AML1a
  • Egr-2
  • Evi-1
  • HOXA5
  • Pax-4a
  • STAT1
  • STAT1alpha
  • STAT1beta
  • YY1

Genomic Locations for PEX6 Gene

Genomic Locations for PEX6 Gene
chr6:42,963,865-42,979,243
(GRCh38/hg38)
Size:
15,379 bases
Orientation:
Minus strand
chr6:42,931,608-42,946,981
(GRCh37/hg19)
Size:
15,374 bases
Orientation:
Minus strand

Genomic View for PEX6 Gene

Genes around PEX6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEX6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PEX6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX6 Gene

Proteins for PEX6 Gene

  • Protein details for PEX6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13608-PEX6_HUMAN
    Recommended name:
    Peroxisome assembly factor 2
    Protein Accession:
    Q13608
    Secondary Accessions:
    • Q5T8W1
    • Q8WYQ0
    • Q8WYQ1
    • Q8WYQ2
    • Q99476

    Protein attributes for PEX6 Gene

    Size:
    980 amino acids
    Molecular mass:
    104061 Da
    Quaternary structure:
    • Interacts directly with PEX26 and PEX1. Mediates the indirect interaction between PEX1 and PEX26. Interacts with ZFAND6.

    Alternative splice isoforms for PEX6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PEX6 Gene

Post-translational modifications for PEX6 Gene

  • Ubiquitination at Lys306 and Lys374
  • Modification sites at PhosphoSitePlus

Other Protein References for PEX6 Gene

No data available for DME Specific Peptides for PEX6 Gene

Domains & Families for PEX6 Gene

Gene Families for PEX6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

Protein Domains for PEX6 Gene

Suggested Antigen Peptide Sequences for PEX6 Gene

GenScript: Design optimal peptide antigens:
  • Peroxisomal-type ATPase 1 (PEX6_HUMAN)
  • cDNA, FLJ94981, highly similar to Homo sapiens peroxisomal biogenesis factor 6 (PEX6), mRNA (Q5T8W1_HUMAN)
  • Peroxisomal biogenesis factor 6, isoform CRA_d (Q8WYQ1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13608

UniProtKB/Swiss-Prot:

PEX6_HUMAN :
  • Belongs to the AAA ATPase family.
Family:
  • Belongs to the AAA ATPase family.
genes like me logo Genes that share domains with PEX6: view

Function for PEX6 Gene

Molecular function for PEX6 Gene

UniProtKB/Swiss-Prot Function:
Involved in peroxisome biosynthesis. Required for stability of the PTS1 receptor. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes.
GENATLAS Biochemistry:
peroxin 6,peroxisome biogenesis factor 6

Phenotypes From GWAS Catalog for PEX6 Gene

Gene Ontology (GO) - Molecular Function for PEX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9588209
GO:0005524 ATP binding IMP 16854980
GO:0008022 protein C-terminus binding IPI 16854980
GO:0016887 ATPase activity IMP 8670792
GO:0042623 ATPase activity, coupled IMP 16854980
genes like me logo Genes that share ontologies with PEX6: view
genes like me logo Genes that share phenotypes with PEX6: view

Human Phenotype Ontology for PEX6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for PEX6

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for PEX6 Gene

Localization for PEX6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX6 Gene

Cytoplasm. Peroxisome membrane. Cell projection, cilium, photoreceptor outer segment. Note=Associated with peroxisomal membranes. Localized at the base of the outer segment of photoreceptor cells (PubMed:26593283). {ECO:0000269 PubMed:26593283}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PEX6 gene
Compartment Confidence
peroxisome 5
cytosol 5
golgi apparatus 2
extracellular 1
nucleus 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PEX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0005737 cytoplasm IEA,IDA 8670792
GO:0005777 peroxisome IDA,IEA 11439091
GO:0005778 peroxisomal membrane IBA 21873635
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PEX6: view

Pathways & Interactions for PEX6 Gene

PathCards logo

SuperPathways for PEX6 Gene

SuperPathway Contained pathways
1 Peroxisome
genes like me logo Genes that share pathways with PEX6: view

Pathways by source for PEX6 Gene

1 KEGG pathway for PEX6 Gene

SIGNOR curated interactions for PEX6 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for PEX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006625 protein targeting to peroxisome IBA,TAS --
GO:0007031 peroxisome organization IMP,IBA 8940266
GO:0016558 protein import into peroxisome matrix IBA 21873635
GO:0016561 protein import into peroxisome matrix, translocation IMP 8670792
GO:0050821 protein stabilization IMP 8670792
genes like me logo Genes that share ontologies with PEX6: view

Drugs & Compounds for PEX6 Gene

(3) Drugs for PEX6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for PEX6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PEX6: view

Transcripts for PEX6 Gene

mRNA/cDNA for PEX6 Gene

(2) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(140) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for PEX6

Alternative Splicing Database (ASD) splice patterns (SP) for PEX6 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c
SP1: - - -
SP2: - - - -
SP3: - - - - -
SP4: - -
SP5:
SP6:

Relevant External Links for PEX6 Gene

GeneLoc Exon Structure for
PEX6
ECgene alternative splicing isoforms for
PEX6

Expression for PEX6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PEX6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PEX6 Gene

This gene is overexpressed in Bone (30.3) and Breast (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PEX6 Gene



NURSA nuclear receptor signaling pathways regulating expression of PEX6 Gene:

PEX6

SOURCE GeneReport for Unigene cluster for PEX6 Gene:

Hs.656425

mRNA Expression by UniProt/SwissProt for PEX6 Gene:

Q13608-PEX6_HUMAN
Tissue specificity: Expressed in the retina, at higher levels in the photoreceptor layer at the joint between the outer and inner segments.

Evidence on tissue expression from TISSUES for PEX6 Gene

  • Intestine(4.2)
  • Nervous system(3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PEX6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pituitary gland
  • scalp
  • skull
  • tongue
  • tooth
Thorax:
  • breast
  • bronchus
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
Abdomen:
  • abdominal wall
  • adrenal gland
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • ovary
  • pelvis
  • penis
  • testicle
  • ureter
  • urethra
  • uterus
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PEX6: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for PEX6 Gene

Orthologs for PEX6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PEX6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PEX6 33 32
  • 99.52 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PEX6 33 32
  • 89.59 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PEX6 33 32
  • 89.05 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pex6 17 33 32
  • 84.56 (n)
rat
(Rattus norvegicus)
Mammalia Pex6 32
  • 83.91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 74 (a)
OneToMany
-- 33
  • 69 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia PEX6 33
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves PEX6 33 32
  • 68.08 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PEX6 33
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pex6 32
  • 68.45 (n)
zebrafish
(Danio rerio)
Actinopterygii pex6 33 32
  • 58.01 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11919 34
  • 38 (a)
Pex6 33
  • 28 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea prx-6 33 34
  • 29 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEX6 35 33
  • 27 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons PEX6 32
  • 47.5 (n)
rice
(Oryza sativa)
Liliopsida Os04g0617600 32
  • 46.6 (n)
Os.25046 32
barley
(Hordeum vulgare)
Liliopsida Hv.8766 32
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1857 33
  • 45 (a)
OneToOne
Cin.2307 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2307 32
Species where no ortholog for PEX6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PEX6 Gene

ENSEMBL:
Gene Tree for PEX6 (if available)
TreeFam:
Gene Tree for PEX6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PEX6: view image

Paralogs for PEX6 Gene

Paralogs for PEX6 Gene

(6) SIMAP similar genes for PEX6 Gene using alignment to 3 proteins:

  • PEX6_HUMAN
  • Q8WYQ0_HUMAN
  • Q8WYQ1_HUMAN
genes like me logo Genes that share paralogs with PEX6: view

Variants for PEX6 Gene

Sequence variations from dbSNP and Humsavar for PEX6 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1010184002 pathogenic, likely-pathogenic, not provided, Peroxisome biogenesis disorder 4B, Peroxisome biogenesis disorder 4a (zellweger) 42,978,878(-) C/T coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs1051218 uncertain-significance, Peroxisome biogenesis disorder 1A (Zellweger) 42,964,123(-) G/A 3_prime_UTR_variant, non_coding_transcript_variant
rs111282915 uncertain-significance, Peroxisome biogenesis disorder 1A (Zellweger) 42,974,893(-) C/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1129186 benign, not specified, Peroxisome biogenesis disorder 1A (Zellweger), not provided 42,964,464(-) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1129187 benign, not specified, Peroxisome biogenesis disorder 1A (Zellweger), not provided, - 42,964,462(-) G/C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PEX6 Gene

Variant ID Type Subtype PubMed ID
esv3576145 CNV gain 25503493
esv3608809 CNV loss 21293372
nsv1017398 CNV gain 25217958
nsv462927 CNV loss 19166990
nsv602992 CNV loss 21841781
nsv830651 CNV loss 17160897

Variation tolerance for PEX6 Gene

Residual Variation Intolerance Score: 43.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.79; 91.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PEX6 Gene

Human Gene Mutation Database (HGMD)
PEX6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PEX6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEX6 Gene

Disorders for PEX6 Gene

MalaCards: The human disease database

(12) MalaCards diseases for PEX6 Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PEX6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PEX6_HUMAN
  • Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862]: A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). {ECO:0000269 PubMed:19105186, ECO:0000269 PubMed:21937992, ECO:0000269 PubMed:26593283}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 4A (PBD4A) [MIM:614862]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. {ECO:0000269 PubMed:10408779, ECO:0000269 PubMed:8670792}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 4B (PBD4B) [MIM:614863]: A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. {ECO:0000269 PubMed:11355018}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Heimler syndrome 2 (HMLR2) [MIM:616617]: A form of Heimler syndrome, a very mild peroxisome biogenesis disorder characterized by sensorineural hearing loss, amelogenesis imperfecta resulting in enamel hyoplasia of the secondary dentition, nail defects, and occasional or late-onset retinal pigmentation abnormalities. {ECO:0000269 PubMed:19105186, ECO:0000269 PubMed:26387595, ECO:0000269 PubMed:27302843}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PEX6

genes like me logo Genes that share disorders with PEX6: view

No data available for Genatlas for PEX6 Gene

Publications for PEX6 Gene

  1. The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. (PMID: 8670792) Yahraus T … Gould SJ (The EMBO journal 1996) 2 3 4 23 56
  2. Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. (PMID: 19105186) Yik WY … Hacia JG (Human mutation 2009) 3 4 23 56
  3. The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6. (PMID: 11355018) Matsumoto N … Fujiki Y (Journal of human genetics 2001) 3 4 23 56
  4. Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders. (PMID: 10408779) Zhang Z … Kondo N (Human mutation 1999) 3 4 23 56
  5. Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans. (PMID: 8940266) Fukuda S … Kondo N (American journal of human genetics 1996) 3 4 23 56

Products for PEX6 Gene

Sources for PEX6 Gene